title: Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures.
abstract: Bruck syndrome manifests with combined features of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder with normal collagen I. The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures. The presence of arthrogryposis differentiates this syndrome from "classical" osteogenesis imperfecta. A family with three affected children is presented with a review of the literature.
authors.affiliation: Clinical Genetic Center, Utrecht, The Netherlands.
authors.forename: E J
authors.initials: EJ
authors.lastname: Breslau-Siderius
authors.forename: R H
authors.initials: RH
authors.lastname: Engelbert
authors.forename: G
authors.initials: G
authors.lastname: Pals
authors.forename: J A
authors.initials: JA
authors.lastname: van der Sluijs
mesh_terms: D001176:Arthrogryposis / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications*; D010024:Osteoporosis / Q000150:complications*; D013577:Syndrome